A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049474



Internal ID18792005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18225635..19110155hg38UCSC Ensembl
Innerchr14:19002112..19697873hg19UCSC Ensembl
Innerchr14:18072112..18767873hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38884521
hg19695762
hg18695762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1749n100
Supporting Variantsnssv3713338
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, POTEG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049474
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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